Evidence map›Paper›PMID 33268356›Full record

ArticleScience advances2020

Histone H3.3 beyond cancer: Germline mutations in

Laura Bryant, Dong Li, Samuel G Cox, Dylan Marchione, Evan F Joiner, Khadija Wilson, Kevin Janssen, Pearl Lee, Michael E March, Divya Nair and 126 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Science advances, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 52 papers.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed
11.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

52 citing papers in PubMed, 96 citations in OpenAlex.

  1. Article
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  7. Review
  8. Structural and enzymatic plasticity of SIRT6 deacylase activity.The Journal of biological chemistry · 2025
    Article
  9. Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.Journal of Korean Neurosurgical Society · 2025
    Article
  10. Review
  11. Review
  12. Trio Exome Sequencing in VACTERL Association.Kidney international reports · 2025
    Article
  13. Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

136 authors at 20 institutions in 12 countries.

Laura BryantCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-8483-8940
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-2265-6727
Samuel G CoxDepartment of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.
Dylan MarchioneEpigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Evan F JoinerVagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Khadija WilsonEpigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kevin JanssenEpigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Pearl LeeAbramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Michael E MarchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Divya NairCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elliott SherrDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.ORCID 0000-0002-4118-5385
Brieana FregeauDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Klaas J WierengaDepartment of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Alexandrea WadleyDepartment of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL 32224, USA.
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.
Nina Powell-HamiltonDepartment of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19810, USA.
Jiddeke van de KampDepartment of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.
Theresa GrebeDivision of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
John DeanDepartment of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.ORCID 0000-0003-3841-0841
Alison RossDepartment of Medical Genetics, Aberdeen Royal Infirmary, Aberdeen, Scotland, UK.
Heather P CrawfordClinical and Metabolic Genetics, Cook Children's Medical Center, Fort Worth, TX 76104, USA.
Zoe PowisDepartment of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Megan T ChoGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Marcia C WillingDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.
Linda ManwaringDivision of Genetics and Genomic Medicine, Department of Pediatrics, Washington University in St. Louis, School of Medicine, St. Louis, MO 63110, USA.
Rachel SchotDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.
Caroline NavaSorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France.
Alexandra AfenjarService de génétique, CRMR des malformations et maladies congénitales du cervelet et CRMR déficience intellectuelle, hôpital Trousseau, AP-HP, France.
Davor LesselInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.ORCID 0000-0003-4496-244X
Matias WagnerInstitut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
Thomas KlopstockFriedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.ORCID 0000-0003-2805-4652
Juliane WinkelmannInstitut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
Claudia B CatarinoFriedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Ziemssenstr. 1a, 80336 Munich, Germany.
Kyle RettererGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Jane L SchuetteDivision of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.
Jeffrey W InnisDivision of Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA.
Amy PizzinoDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Sabine LüttgenDepartment of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Jonas DeneckeDepartment of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Tim M StromInstitut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.
Kristin G MonaghanGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
DDD Study
Zuo-Fei YuanEpigenetics Institute, Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Holly DubbsDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Renee BendGreenwood Genetic Center, Greenwood, SC 29646, USA.
Jennifer A LeeGreenwood Genetic Center, Greenwood, SC 29646, USA.
Michael J LyonsGreenwood Genetic Center, Greenwood, SC 29646, USA.
Julia HoefeleInstitut für Humangenetik, Technische Universität München, Munich, Germany.
Roman GünthnerDepartment of Nephrology, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.
Heiko ReutterDepartment of Neonatology and Pediatric Intensive Care, Children's Hospital, University Hospital Bonn & Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.
Boris KerenAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.
Kelly RadtkeDepartment of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Omar SherbiniDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Cameron MrokseDepartment of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Katherine L HelbigDepartment of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Sylvie OdentCHU Rennes, Service de Génétique Clinique, CNRS UMR6290, University Rennes1, Rennes, France.
Benjamin CogneCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
Sandra MercierCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
Stephane BezieauCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
Thomas BesnardCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.
Sebastien KuryCHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France.ORCID 0000-0001-5497-0465
Richard RedonINSERM, CNRS, UNIV Nantes, CHU Nantes, l'institut du thorax, 44007 Nantes, France.
Karit ReinsonDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Monica H WojcikDivision of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Katrin ÕunapDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
Pilvi IlvesRadiology Department of Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
A Micheil InnesAlberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Kristin D KernohanChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H8L1, Canada.
Care4Rare Canada Consortium
Gregory CostainDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
M Stephen MeynDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
David ChitayatDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Elaine ZackaiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Anna LehmanDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Hilary KitsonDepartment of Pediatrics, University of British Columbia, Vancouver, Canada.
CAUSES Study
Martin G MartinDivision of Gastroenterology and Nutrition, Department of Pediatrics, Mattel Children's Hospital, Los Angeles, CA 90095, USA.
Julian A Martinez-AgostoDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Undiagnosed Diseases Network
Stan F NelsonDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Christina G S PalmerDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Jeanette C PappDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Neil H ParkerDavid Geffen School of Medicine, Los Angeles, CA 90095, USA.
Janet S SinsheimerInstitute for Society and Genetics, Departments of Human Genetics, Biomathematics, and Biostatistics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Eric VilainCenter for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.
Jijun WanDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Amanda J YoonDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Allison ZhengDepartment of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA 90095, USA.
Elise BrimbleDepartment of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA 94305, USA.
Giovanni Battista FerreroDepartment of Public Health and Pediatrics, University of Torino, Turin, Italy.
Francesca Clementina RadioGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Diana CarliDepartment of Public Health and Pediatrics, University of Torino, Turin, Italy.
Sabina BarresiGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Alfredo BruscoDepartment of Medical Sciences, University of Torino, Turin, Italy.ORCID 0000-0002-8318-7231
Marco TartagliaGenetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Jennifer Muncy ThomasPediatrics and Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Luis UmanaGenetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Marjan M WeissDepartment of Clinical Genetics, VU Medical Center, Amsterdam, Netherlands.
Garrett GotwayGenetics and Metabolism, UT Southwestern Medical Center, Dallas, TX 75390, USA.
K E StuurmanDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, Netherlands.
Michelle L ThompsonHudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Kirsty McWalterGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.ORCID 0000-0002-1654-9036
Constance T R M StumpelDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Servi J C StevensDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.ORCID 0000-0001-8769-3150
Alexander P A StegmannDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.
Kristian TvetenDepartment of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Arve VølloDepartment of Pediatrics, Hospital of Østfold, 1714 Grålum, Norway.
Trine PrescottDepartment of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.
Christina FagerbergDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Lone Walentin LaulundH.C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Martin J LarsenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Melissa BylerSUNY Upstate Medical University, Syracuse, NY 13210, USA.
Robert Roger LebelSUNY Upstate Medical University, Syracuse, NY 13210, USA.
Anna C HurstUniversity of Alabama at Birmingham, Birmingham, AL 35294, USA.
Joy DeanUniversity of Alabama at Birmingham, Birmingham, AL 35294, USA.
Samantha A Schrier VerganoDivision of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk VA 23507, USA.
Jennifer NormanINTEGRIS Pediatric Neurology, Oklahoma City, OK 73112, USA.
Saadet Mercimek-AndrewsDivision of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.
Juanita NeiraDepartment of Human Genetics, Emory University, Atlanta, GA 30322, USA.
Margot I Van AllenDepartment of Medical Genetics, University of British Columbia, Vancouver, Canada.
Nicola LongoDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84112, USA.
Elizabeth SellarsUniversity of Arkansas for Medical Sciences, Little Rock, AR 72701, USA.
Raymond J LouieGreenwood Genetic Center, Greenwood, SC 29646, USA.
Sara S CatheyGreenwood Genetic Center, Greenwood, SC 29646, USA.
Elly BrokampVanderbilt University, Nashville, TN 37203, USA.
Delphine HeronAP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013 Paris, France.
Molly SnyderChild Neurology, UT Southwestern Medical Center, Dallas, TX 75390, USA.
Adeline VanderverDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Celeste SimonVagelos College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Xavier de la CruzVall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
Natália PadillaVall d'Hebron Institute of Research (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
J Gage CrumpDepartment of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.ORCID 0000-0002-3209-0026
Wendy ChungDepartments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
Benjamin GarciaDepartment of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine, University of Southern California, CA 90033, USA.
Hakon H HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-2814-7461
Elizabeth J BhojCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bhoje@email.chop.edu.ORCID 0000-0001-5748-3507
Children's Hospital of Philadelphia · USUniversity of California, Los Angeles · USCentre National de la Recherche Scientifique · FRMaastricht University · NLSouthwestern Medical Center · USUniversity of Southern California · USBambino Gesù Children's Hospital · ITErasmus MC · NLOdense University Hospital · DKSorbonne Université · FRSUNY Upstate Medical University · USUniversity of British Columbia · CAUniversity of Pennsylvania · USGreenwood Genetic Center · USUniversität Hamburg · DEUniversity of Toronto · CAAberdeen Royal Infirmary · GBAmbry Genetics (United States) · USBroad Institute · USChildren's National · US

Funding

Shared Resources Core 2: Quantitative Proteomics CoreP01CA196539 · NCI · ROCKEFELLER UNIVERSITY · PI GARCIA, BENJAMIN A · 2015 to 2024
$17.6M
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
De novo copy number variation and gene discovery in human brain malformationsR01NS058721 · NINDS · UNIVERSITY OF CHICAGO · PI ARGILLI, EMANUELA · 2008 to 2025
$10.9M
Progenitor Regulation in Craniofacial Development and RegenerationR35DE027550 · NIDCR · UNIVERSITY OF SOUTHERN CALIFORNIA · PI CRUMP, GAGE D · 2017 to 2024
$8.0M
Training Program in Newborn and Developmental DiseasesT32HD007466 · NICHD · CHILDREN'S HOSPITAL BOSTON · PI KOUREMBANAS, STELLA · 1994 to 2016
$8.0M
Pediatric Scholars ProgramK12HD043245 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ST. GEME, JOSEPH W. · 2003 to 2022
$7.4M
STRUCTURAL BIOLOGY TRAINING PROGRAMT32GM008275 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI WAND, A. JOSHUA · 1988 to 2018
$6.0M
Understanding the Role of Combinatorial Histone PTM PatternsR01GM110174 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI GARCIA, BENJAMIN A · 2014 to 2017
$1.3M
Training Medical Students in NIDDK ResearchT35DK093430 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI QAIS AL-AWQATI, Utpal Pajvani · 2012 to 2026
$1.3M
NCI NIH HHS P01 CA196539NHGRI NIH HHS UM1 HG008900NICHD NIH HHS K12 HD043245NICHD NIH HHS T32 HD007466NICHD NIH HHS T32 HD07466NIDCR NIH HHS R35 DE027550NIDDK NIH HHS T35 DK093430NIGMS NIH HHS GM110174NIGMS NIH HHS R01 GM110174NIGMS NIH HHS T32 GM008275NINDS NIH HHS R01 NS058721
6 · The paper itself

Abstract

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (

Indexed as

HistonesNeurodegenerative DiseasesAnimalsForkhead Transcription FactorsGerm-Line MutationHumansZebrafishZebrafish ProteinsForkhead Transcription Factorsfoxd3 protein, zebrafishH3-3A protein, humanHistonesZebrafish Proteins

Identifiers

PMID33268356
PMCPMC7821880
OpenAlexW3109333644

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.